A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2083362



Internal ID17854844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19496993..19497610hg38UCSC Ensembl
Innerchr17:19400306..19400923hg19UCSC Ensembl
Innerchr17:19340898..19341515hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960074
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2083362
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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